N17S (p.Asn17Ser) variant of FKRP (Q9H9S5)
N17S (p.Asn17Ser) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- ExAC rs761445941
- TOPMed rs761445941
- gnomAD rs761445941
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.63
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available